Canonical Allele Identifier: CA2755334239

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470745_15470746insAACCTTGCAGGGCA , CM000665.2:g.15470745_15470746insAACCTTGCAGGGCA	GRCh38
NC_000003.11:g.15512252_15512253insAACCTTGCAGGGCA , CM000665.1:g.15512252_15512253insAACCTTGCAGGGCA	GRCh37
NC_000003.10:g.15487256_15487257insAACCTTGCAGGGCA	NCBI36
NG_009032.1:g.56006_56007insTGCCCTGCAAGGTT
NG_009032.2:g.56006_56007insTGCCCTGCAAGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.637-130_637-129insTGCCCTGCAAGGTT MANE Select	ENSP00000373298.3:n.637-130_637-129insTGCCCTGCAAGGTT
ENST00000604401.2:n.633-130_633-129insTGCCCTGCAAGGTT
ENST00000679838.1:c.*399-130_*399-129insTGCCCTGCAAGGTT	ENSP00000505708.1:n.*399-130_*399-129insTGCCCTGCAAGGTT
ENST00000680545.1:n.403-130_403-129insTGCCCTGCAAGGTT
ENST00000681097.1:c.637-130_637-129insTGCCCTGCAAGGTT	ENSP00000505397.1:n.637-130_637-129insTGCCCTGCAAGGTT
ENST00000383781.8:c.607-130_607-129insTGCCCTGCAAGGTT	ENSP00000373291.3:n.607-130_607-129insTGCCCTGCAAGGTT
ENST00000383786.9:c.535-130_535-129insTGCCCTGCAAGGTT	ENSP00000373296.3:n.535-130_535-129insTGCCCTGCAAGGTT
ENST00000383788.9:c.637-130_637-129insTGCCCTGCAAGGTT	ENSP00000373298.3:n.637-130_637-129insTGCCCTGCAAGGTT
ENST00000603808.5:c.637-130_637-129insTGCCCTGCAAGGTT	ENSP00000474271.1:n.637-130_637-129insTGCCCTGCAAGGTT
ENST00000605797.1:c.466-130_466-129insTGCCCTGCAAGGTT	ENSP00000474936.1:n.466-130_466-129insTGCCCTGCAAGGTT
NM_005677.3:c.637-130_637-129insTGCCCTGCAAGGTT	NP_005668.2:n.637-130_637-129insTGCCCTGCAAGGTT
NM_080538.2:c.607-130_607-129insTGCCCTGCAAGGTT	NP_536799.1:n.607-130_607-129insTGCCCTGCAAGGTT
NM_080539.3:c.535-130_535-129insTGCCCTGCAAGGTT	NP_536800.2:n.535-130_535-129insTGCCCTGCAAGGTT
NM_005677.4:c.637-130_637-129insTGCCCTGCAAGGTT MANE Select	NP_005668.2:n.637-130_637-129insTGCCCTGCAAGGTT
NM_080539.4:c.535-130_535-129insTGCCCTGCAAGGTT	NP_536800.2:n.535-130_535-129insTGCCCTGCAAGGTT